Copy number variations on chromosome 2: impact on human phenotype
Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases in particular neurodevelopmental disorders, behavioral problems, and skeletal abnormalities. Array comparative genomic hybridization (aCGH) constitute an added value for the diagnosis of these neurodevelopm...
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| Formato: | masterThesis |
| Idioma: | eng |
| Publicado em: |
2022
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| Texto completo: | https://hdl.handle.net/10216/142046 |
| País: | Portugal |
| Oai: | oai:repositorio-aberto.up.pt:10216/142046 |